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4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-glucopyranoside and Amaurotic Familial Idiocy

4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-glucopyranoside has been researched along with Amaurotic Familial Idiocy in 11 studies

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19906 (54.55)18.7374
1990's4 (36.36)18.2507
2000's1 (9.09)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Guetta, E; Peleg, L1
Inui, K; Wenger, DA1
Bayleran, J; Hechtman, P; Saray, W1
Jendoubi, M; Lacorazza, HD1
Goldman, B; Peleg, L1
Bobrow, M; Ellis, IH; Fensom, AH; Landels, EC1
Archibald, A; Callahan, JW; Clarke, JT; Shuman, C; Skomorowski, MA1
Grebner, EE; Wenger, DA1
Besley, GT; Broadhead, DM; Young, JA1
Charrow, J; Inui, K; Wenger, DA1
Furukawa, M; Inui, K; Okada, S; Suehara, N; Tanizawa, O; Wenger, DA; Yabuuchi, H; Yutaka, Y1

Other Studies

11 other study(ies) available for 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-glucopyranoside and Amaurotic Familial Idiocy

ArticleYear
Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
    Methods in molecular biology (Clifton, N.J.), 2008, Volume: 444

    Topics: Acetylglucosamine; Amniocentesis; Amniotic Fluid; beta-Hexosaminidase alpha Chain; Biological Assay; Chorionic Villi; Chorionic Villi Sampling; DNA Mutational Analysis; Female; Fetal Blood; Gene Expression Regulation, Developmental; Genetic Testing; Humans; Hymecromone; Mutation; Polymerase Chain Reaction; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Substrate Specificity; Tay-Sachs Disease; Time Factors

2008
Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes.
    Clinical genetics, 1984, Volume: 26, Issue:4

    Topics: Acetylglucosaminidase; beta-N-Acetylhexosaminidases; Female; Genetic Carrier Screening; Hexosaminidase A; Hexosaminidases; Humans; Hymecromone; Leukocytes; Male; Sandhoff Disease; Substrate Specificity; Tay-Sachs Disease; Umbelliferones

1984
Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
    Clinica chimica acta; international journal of clinical chemistry, 1984, Nov-15, Volume: 143, Issue:2

    Topics: beta-N-Acetylhexosaminidases; Cell Line; Drug Stability; Fibroblasts; Gangliosidoses; Genetic Carrier Screening; Genotype; Hexosaminidase A; Hexosaminidase B; Hexosaminidases; Homozygote; Hot Temperature; Humans; Hymecromone; Kinetics; Liver; Substrate Specificity; Tay-Sachs Disease; Umbelliferones

1984
In situ assessment of beta-hexosaminidase activity.
    BioTechniques, 1995, Volume: 19, Issue:3

    Topics: Acetylglucosamine; beta-N-Acetylhexosaminidases; Cells, Cultured; Fibroblasts; Glucuronates; Histocytochemistry; Humans; Hymecromone; Isoenzymes; Mutation; Naphthols; Sandhoff Disease; Spectrometry, Fluorescence; Tay-Sachs Disease

1995
Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
    European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies, 1994, Volume: 32, Issue:2

    Topics: Acetylglucosamine; beta-N-Acetylhexosaminidases; Chromatography, Ion Exchange; Enzyme Stability; Genetic Carrier Screening; Genetic Testing; Genotype; Hexosaminidase A; Hexosaminidase B; Hot Temperature; Humans; Hymecromone; Jews; Substrate Specificity; Tay-Sachs Disease

1994
Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.
    Journal of medical genetics, 1991, Volume: 28, Issue:2

    Topics: Acetylglucosamine; Automation; beta-N-Acetylhexosaminidases; Cell Separation; Centrifugation; Female; Flow Cytometry; Genetic Carrier Screening; Genetic Testing; Glucosamine; Hexosaminidase A; Hot Temperature; Humans; Hymecromone; Leukocytes; Pregnancy; Prenatal Diagnosis; Tay-Sachs Disease

1991
First trimester prenatal diagnosis of Tay-Sachs disease using the sulfated synthetic substrate for hexosaminidase A.
    Clinical biochemistry, 1990, Volume: 23, Issue:6

    Topics: beta-N-Acetylhexosaminidases; Cells, Cultured; Chorionic Villi; Female; Hexosaminidase A; Humans; Hymecromone; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Risk Factors; Substrate Specificity; Tay-Sachs Disease

1990
Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi.
    Prenatal diagnosis, 1987, Volume: 7, Issue:6

    Topics: beta-N-Acetylhexosaminidases; Chorionic Villi; Female; Hexosaminidase A; Humans; Hymecromone; Pregnancy; Prenatal Diagnosis; Tay-Sachs Disease; Umbelliferones

1987
GM2-gangliosidosis variant with altered substrate specificity: evidence for alpha-locus genetic compound.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:4

    Topics: beta-N-Acetylhexosaminidases; Humans; Hymecromone; Infant; Male; Substrate Specificity; Tay-Sachs Disease

1987
Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity.
    Clinical genetics, 1985, Volume: 27, Issue:1

    Topics: Acetylglucosamine; Alleles; beta-N-Acetylhexosaminidases; Child, Preschool; Female; Glucosamine; Heterozygote; Hexosaminidase A; Hexosaminidases; Humans; Hymecromone; Mutation; Pedigree; Substrate Specificity; Tay-Sachs Disease

1985
Prenatal diagnosis of GM2 gangliosidoses using a fluorogenic sulfated substrate.
    Clinica chimica acta; international journal of clinical chemistry, 1986, Jan-30, Volume: 154, Issue:2

    Topics: Amniotic Fluid; Female; Hexosaminidases; Humans; Hymecromone; Pregnancy; Prenatal Diagnosis; Sandhoff Disease; Tay-Sachs Disease; Umbelliferones

1986